Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Bruce Lefroy Centre, |
RCV001072152 | SCV001235718 | likely pathogenic | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2020-01-01 | criteria provided, single submitter | research | PM2, PM3, PP3, PP1. Affected siblings carry this variant in trans with WDR62 variant: NM_001083961(WDR62):c.1480G>A, p. Gly494Arg ClinVar:VCV000160249 |